AOA1
MCID: ATX007
MIFTS: 27

Ataxia with Oculomotor Apraxia Type 1 (AOA1) malady

Genetic diseases (common), Neuronal diseases categories

Summaries for Ataxia with Oculomotor Apraxia Type 1

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20GeneReviews, 34MalaCards
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MalaCards: Ataxia with Oculomotor Apraxia Type 1, also known as ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, is related to apraxia and ataxia. An important gene associated with Ataxia with Oculomotor Apraxia Type 1 is APTX (aprataxin), and among its related pathways is Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. The compounds minocycline and creatinine have been mentioned in the context of this disorder. Related mouse phenotypes are taste/olfaction and homeostasis/metabolism.

GeneReviews summary for aoa

Aliases & Classifications for Ataxia with Oculomotor Apraxia Type 1

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9Disease Ontology, 20GeneReviews, 63UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)
Anatomical: Neuronal diseases


Aliases & Descriptions:

ataxia with oculomotor apraxia type 1 9 20
ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 63
aoa1 20


External Ids:

Disease Ontology9 DOID:0050754

Related Diseases for Ataxia with Oculomotor Apraxia Type 1

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18GeneCards, 19GeneDecks
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Graphical network of diseases related to Ataxia with Oculomotor Apraxia Type 1:



Diseases related to ataxia with oculomotor apraxia type 1

Symptoms for Ataxia with Oculomotor Apraxia Type 1

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Drugs & Therapeutics for Ataxia with Oculomotor Apraxia Type 1

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

Search ClinicalTrials for Ataxia with Oculomotor Apraxia Type 1

Search NIH Clinical Center for Ataxia with Oculomotor Apraxia Type 1

Search CenterWatch for Ataxia with Oculomotor Apraxia Type 1

Genetic Tests for Ataxia with Oculomotor Apraxia Type 1

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Anatomical Context for Ataxia with Oculomotor Apraxia Type 1

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Animal Models for Ataxia with Oculomotor Apraxia Type 1 or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Ataxia with Oculomotor Apraxia Type 1:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053949.0SLC6A3, HTT
2MP:00053768.5SLC6A3, HTT, APTX
3MP:00053848.2SLC6A3, HTT, APTX

Publications for Ataxia with Oculomotor Apraxia Type 1

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53PubMed
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Articles related to Ataxia with Oculomotor Apraxia Type 1:

idTitleAuthorsYear
1
A novel mutation in the aprataxin (APTX) gene in an Iranian individual suffering early-onset ataxia with oculomotor apraxia type 1(AOA1) disease. (23183622)
2012
2
Complete deletion of the aprataxin gene: ataxia with oculomotor apraxia type 1 with severe phenotype and cognitive deficit. (21686683)
2009
3
Nigrostriatal involvement in ataxia with oculomotor apraxia type 1. (18004640)
2008
4
Complete deletion of the aprataxin gene: ataxia with oculomotor apraxia type 1 with severe phenotype and cognitive deficit. (18202221)
2008
5
Ataxia with oculomotor apraxia type 1 (AOA1): clinical and neuropsychological features in 2 new patients and differential diagnosis. (18403580)
2008
6
Ataxia with oculomotor apraxia type 1 in Southern Italy: late onset and variable phenotype. (15596775)
2004
7
Cerebellar ataxia with oculomotor apRAxia type 1: clinical and genetic studies. (14506070)
2003
8
Ataxia with Oculomotor Apraxia Type 1 (20301629)
1993

Variations for Ataxia with Oculomotor Apraxia Type 1

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Expression for genes affiliated with Ataxia with Oculomotor Apraxia Type 1

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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Ataxia with Oculomotor Apraxia Type 1

Search GEO for disease gene expression data for Ataxia with Oculomotor Apraxia Type 1.

Pathways for genes affiliated with Ataxia with Oculomotor Apraxia Type 1

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Sources:
51PathCards, 56Reactome, 31KEGG, 39NCBI BioSystems Database
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Pathways related to Ataxia with Oculomotor Apraxia Type 1 according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1SLC6A3, HTT

Compounds for genes affiliated with Ataxia with Oculomotor Apraxia Type 1

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Sources:
46Novoseek, 12DrugBank, 30IUPHAR, 25HMDB
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Compounds related to Ataxia with Oculomotor Apraxia Type 1 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1minocycline46 1210.1HTT, SLC6A3
2creatinine469.1HTT, SLC6A3
3coq10469.1APTX, HTT
4nmda46 3010.0SLC6A3, HTT
5dopamine46 30 25 1211.8SLC6A3, HTT

GO Terms for genes affiliated with Ataxia with Oculomotor Apraxia Type 1

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17Gene Ontology
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Cellular components related to Ataxia with Oculomotor Apraxia Type 1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1axonGO:0304249.1SLC6A3, HTT

Biological processes related to Ataxia with Oculomotor Apraxia Type 1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cell deathGO:0082199.3SLC6A3, APTX
2locomotory behaviorGO:0076268.8SLC6A3, HTT

Molecular functions related to Ataxia with Oculomotor Apraxia Type 1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein N-terminus bindingGO:0474859.3SLC6A3, APTX

Products for genes affiliated with Ataxia with Oculomotor Apraxia Type 1

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Sources for Ataxia with Oculomotor Apraxia Type 1

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet